DISEASES

Disease-gene associations mined from literature

Human genes for glycogen storage disease V

Glycogen storage disease V [DOID:2746]

A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.

Synonyms:  glycogen storage disease V,  DOID:2746,  glycogen storage disease Vs,  glycogen storage disease type V,  Glycogen storage disease, type V ...

Linkouts:  OMIM